DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic destructive airway disease and randomization of left/right body asymmetry. Males often have reduced fertility due to impaired sperm tail function. The complex PCD phenotype results from dysfunction of c...

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Hauptverfasser: Loges, Niki Tomas, Olbrich, Heike, Fenske, Lale, Mussaffi, Huda, Horvath, Judit, Fliegauf, Manfred, Kuhl, Heiner, Baktai, Gyorgy, Peterffy, Erzsebet, Chodhari, Rahul, Chung, Eddie M.K., Rutman, Andrew, O'Callaghan, Christopher, Blau, Hannah, Tiszlavicz, Laszlo, Voelkel, Katarzyna, Witt, Michal, Ziętkiewicz, Ewa, Neesen, Juergen, Reinhardt, Richard, Mitchison, Hannah M., Omran, Heymut
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2008
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668028/
https://ncbi.nlm.nih.gov/pubmed/18950741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.10.001
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